Disease List
- Pallister-Hall syndrome 1
- Paragangliomas
- Parenti-Fraccaro - See Achondrogenesis
- Partial molar pregnancy - See Hydatidiform mole
- Patau syndrome - See Trisomy 13
- Pendred syndrome
- Peutz-Jeghers syndrome
- Pfeiffer syndrome
- Phelan-mcdermid syndrome
- Phenylketonuria
- phenytoin embryopathy - See Fetal hydantoin syndrome
- PhK deficiency - See Glycogen storage disease ixa
- Phosphorylase kinase deficiency - See Glycogen storage disease ixa
- Pilomatrixoma
- Pitt-hopkins syndrome
- PKU - See Phenylketonuria
- Polycystic kidney disease, autosomal recessive
- Pompe disease
- Pontocerebellar Hypoplasia
- Prader-Willi syndrome
- Primary Distal Renal Tubular Acidosis
- Primary dRTA - See Primary Distal Renal Tubular Acidosis
- progeria - See Hutchinson-gilford progeria syndrome
- Propionic acidemia
